From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epitheli...

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Xehetasun bibliografikoak
Argitaratua izan da:Mol Biol Cell
Egile Nagusiak: Veit, Gudio, Avramescu, Radu G., Chiang, Annette N., Houck, Scott A., Cai, Zhiwei, Peters, Kathryn W., Hong, Jeong S., Pollard, Harvey B., Guggino, William B., Balch, William E., Skach, William R., Cutting, Garry R., Frizzell, Raymond A., Sheppard, David N., Cyr, Douglas M., Sorscher, Eric J., Brodsky, Jeffrey L., Lukacs, Gergely L.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society for Cell Biology 2016
Gaiak:
MBoC Perspective on Cell Biology and Human Health
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4751594/
https://ncbi.nlm.nih.gov/pubmed/26823392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E14-04-0935
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